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The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis

Svensson, Peter LU ; Zöller, Bengt LU orcid ; Mattiasson, Ingrid LU and Dahlbäck, Björn LU (1997) In Journal of Internal Medicine 241(5). p.379-385
Abstract

OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.

DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.

MAIN OUTCOME MEASURE: The prevalence of FV:R506Q... (More)

OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.

DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.

MAIN OUTCOME MEASURE: The prevalence of FV:R506Q mutation.

RESULTS: The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7-5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01).

CONCLUSION: To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden.

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organization
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Contribution to journal
publication status
published
subject
keywords
Adult, Aged, Aged, 80 and over, Case-Control Studies, Factor V, Factor Va, Female, Heterozygote Detection, Humans, Male, Middle Aged, Outpatients, Phlebography, Point Mutation, Prevalence, Protein C, Thrombophlebitis, Journal Article, Research Support, Non-U.S. Gov't
in
Journal of Internal Medicine
volume
241
issue
5
pages
7 pages
publisher
Wiley-Blackwell
external identifiers
  • scopus:0030609926
  • pmid:9183305
ISSN
0954-6820
language
English
LU publication?
yes
id
5aa3924e-4490-499b-bb5a-0d1c905f4e0d
date added to LUP
2017-10-19 16:32:25
date last changed
2024-01-14 08:04:13
@article{5aa3924e-4490-499b-bb5a-0d1c905f4e0d,
  abstract     = {{<p>OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.</p><p>DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.</p><p>MAIN OUTCOME MEASURE: The prevalence of FV:R506Q mutation.</p><p>RESULTS: The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7-5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01).</p><p>CONCLUSION: To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden.</p>}},
  author       = {{Svensson, Peter and Zöller, Bengt and Mattiasson, Ingrid and Dahlbäck, Björn}},
  issn         = {{0954-6820}},
  keywords     = {{Adult; Aged; Aged, 80 and over; Case-Control Studies; Factor V; Factor Va; Female; Heterozygote Detection; Humans; Male; Middle Aged; Outpatients; Phlebography; Point Mutation; Prevalence; Protein C; Thrombophlebitis; Journal Article; Research Support, Non-U.S. Gov't}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{379--385}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Journal of Internal Medicine}},
  title        = {{The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis}},
  volume       = {{241}},
  year         = {{1997}},
}